Journal Mobile Options
Table of Contents
Vol. 92, No. 1-2, 2001
Issue release date: 2001
Cytogenet Cell Genet 92:103–107 (2001)

Mapping of genes and transcribed sequences in a gene rich 400-kb region on human chromosome 11p15.1→p14

Caldwell G.M. · Eddy R.L. · Day C.D. · Haley L.H. · Cooper P.R. · Sait S.S.J. · Hejtmancik F. · Smith R.J.H. · Morton C.C. · Higgins M.J. · Shows T.B.
Departments of aCancer Genetics and bCytogenetics, Roswell Park Cancer Institute, Buffalo NY; cNational Eye Institute, National Institutes of Health, Bethesda MD; dDepartment of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City IA; eDepartment of Pathology, Brigham & Women’s Hospital, Boston MA (USA)

Individual Users: Register with Karger Login Information

Please create your User ID & Password

Contact Information

I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in


We have identified a number of transcribed sequences within a 400-kb interval on chromosome 11p15.1→ p14. Six genes and 13 novel transcripts including ESTs, cDNAs and exons have been identified and assigned to this region. Comparison of mRNA sequence with genomic sequence has enabled us to determine the exon/intron structure of four of the genes (NUCB2, PIK3C2A, RPS13 and OR7E14P).    

Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.


  1. Aguilar-Bryan L, Nichols CG, Wechsler SW, Clement JP IV, Boyd AE III, Gonzalez G, Herrera-Sosa H, Nguy K, Bryan J, Nelson DA: Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science 268:423–426 (1995).
  2. Ayyagari R, Nestorowicz A, Li Y, Chandrasekharappa S, Chinault C, van Tuinen P, Smith RJ, Hejtmancik JF, Permutt MA: Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p15.1→p14. Genome Res 6:504–514 (1996b).
  3. Barnikol-Watanabe S, Gross NA, Gotz H, Henkel T, Karabinos A, Kratzin H, Barnikol HU, Hilschmann N: Human protein NEFA, a novel DNA binding/EF-hand/leucine zipper protein: Molecular cloning and sequence analysis of the cDNA, isolation and characterisation of the protein. Biol Chem Hoppe Seyler 37:497–512 (1994).
  4. Buettner JA, Glusman G, Ben-Arie N, Ramos P, Lancet D, Evans GA: Organization and evolution of olfactory receptor genes on human chromosome 11. Genomics 53:56–68 (1998).

    External Resources

  5. Chadeneau C, LeMoullac B, Denis MG: Cloning and analysis of the human S13 ribosomal protein cDNA. Nucl Acids Res 21:2945 (1993).

    External Resources

  6. Church DM, Stotler CJ, Rutter JL, Murrell JR, Trofatter JA, Buckler AJ: Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet 6:98–105 (1994).

    External Resources

  7. Craig JM, Bickmore WA: The distribution of CpG islands in mammalian chromosomes. Nature Genet 7:376–382 (1994).
  8. Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tome P, Hui L, Matise TC, McKusick KB, Beckmann JS, Bentolila S, Bihoreau M, Birren BB, Browne J, Butler A, Castle AB, Chiannilkulchai N, Clee C, Day PJ, Dehejia A, Dibling T, Drouot N, Duprat S, Fizames C, Bentley DR, et al: A physical map of 30000 human genes. Science 282:744–746 (1998).
  9. Domin J, Pages F, Volinia S, Rittenhouse SE, Zvelebil MJ, Stein RC, Waterfield MD: Cloning of a human phosphoinositide 3-kinase with a C2 domain that displays reduced sensitivity to the inhibitor wortmannin. Biochem J 15:139–147 (1997).
  10. Higgins MJ, Day CD, Smilinich NJ, Ni L, Cooper PR, Nowak NJ, Davies C, de Jong PJ, Hejtmancik F, Evans GA, Smith RJ, Shows TB: Contig maps and genomic sequencing identify candidate genes in the usher 1C locus. Genome Res 8:57–68 (1998).

    External Resources

  11. Inagaki N, Gonoi T, Clement JP IV, Namba N, Inazawa J, Gonzalez G, Aguilar-Bryan L, Seino S, Bryan J: Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 270:1166–1170 (1995).
  12. James P, Vorherr T, Carafoli E: Calmodulin-binding domains: just two faced or multi-faceted? Trends Biochem Sci 20:38–42 (1995).
  13. Karabinos A, Bhattacharya D, Morys-Wortmann C, Kroll K, Hirschfeld G, Kratzin HD, Barnikol-Watanabe S, Hilschmann N: The divergent domains of the NEFA and nucleobindin proteins are derived from an EF-hand ancestor. Mol Biol Evol 13:990–998 (1996).

    External Resources

  14. Levinson B, Kenwrick S, Gamel P, Fisher K, Gitschier J: Evidence for a third transcript from the human factor VIII gene. Genomics 14:585–589 (1992).

    External Resources

  15. Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP IV, Bryan J, Aguilar-Bryan L, Permutt MA: Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum molec Genet 5:1813–1822 (1996).
  16. Nishizuka Y: Intracellular signaling by hydrolysis of phospholipids and activation of protein kinase C. Science 258:607–614 (1992).
  17. Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR, Morton CC: Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridisation and differential screening. Genomics 23:42–50 (1994).
  18. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J: Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268:426–429 (1995).
  19. Thomas P, Ye Y, Lightner E: Mutation of the pancreatic islet inward rectifier Kir62 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum molec Genet 5:1809–1812 (1996).
  20. Trask BJ: DNA sequence localization in metaphase and interphase cells by fluorescence in situ hybridization. Meth Cell Biol 35:3–35 (1991).
  21. Viskochil D, Cawthon R, O’Connell P, Xu GF, Stevens J, Culver M, Carey J, White R: The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene. Mol Cell Biol 11:906–912 (1991).

    External Resources

Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50